Entity Details

Primary name CARD8_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9Y2G2
EntryNameCARD8_HUMAN
FullNameCaspase recruitment domain-containing protein 8
TaxID9606
Evidenceevidence at protein level
Length537
SequenceStatuscomplete
DateCreated2001-06-20
DateModified2021-06-02

Ontological Relatives

GenesCARD8

GO terms

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GOName
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0008656 cysteine-type endopeptidase activator activity involved in apoptotic process
GO:0010804 negative regulation of tumor necrosis factor-mediated signaling pathway
GO:0031665 negative regulation of lipopolysaccharide-mediated signaling pathway
GO:0032088 negative regulation of NF-kappaB transcription factor activity
GO:0032089 NACHT domain binding
GO:0032691 negative regulation of interleukin-1 beta production
GO:0032731 positive regulation of interleukin-1 beta production
GO:0032991 protein-containing complex
GO:0042803 protein homodimerization activity
GO:0042981 regulation of apoptotic process
GO:0043122 regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043124 negative regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0050700 CARD domain binding
GO:0061702 inflammasome complex
GO:0072559 NLRP3 inflammasome complex
GO:0097340 inhibition of cysteine-type endopeptidase activity

Subcellular Location

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Subcellular Location
Cytoplasm
Inflammasome
Nucleus

Domains

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DomainNameCategoryType
IPR001315 CARD domainDomainDomain
IPR011029 Death-like domain superfamilyFamilyHomologous superfamily
IPR025307 FIIND domainDomainDomain

Diseases

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Disease IDSourceNameDescription
619079 OMIMInflammatory bowel disease 30 (IBD30)A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology and a multifactorial inheritance pattern. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. The disease may be caused by variants affecting the gene represented in this entry. A number of groups have studied the possible association between variant rs2043211 and inflammatory bowel disease (PubMed:17030188, PubMed:19319132, PubMed:23506543, PubMed:26462578). According to some studies involving a limited number of patients, this variant is associated with inflammatory bowel disease (PubMed:17030188, PubMed:19319132, PubMed:23506543). Such association is however not confirmed in studies involving a large number of patients (PubMed:26462578). Discrepancies between studies may be caused by the variable consequences of this polymorphism in the different isoforms (PubMed:29408806). Whereas rs2043211 introduces a stop codon after 'Cys-10' (Cys10Ter) in isoform 1, and therefore the likely formation of a downstream transcriptional start site for this isoform, it causes Ile-102 variation in isoform 5, due to the upstream start site (PubMed:29408806). Moreover, most patients bearing this polymorphism continue to express the slightly smaller but fully functional isoform 7, as a result of transcription downstream of the rs2043211 polymorphism (PubMed:29408806).